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GUF1 GTP binding elongation factor GUF1 [ Homo sapiens (human) ]

Gene ID: 60558, updated on 5-Mar-2024

Summary

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Official Symbol
GUF1provided by HGNC
Official Full Name
GTP binding elongation factor GUF1provided by HGNC
Primary source
HGNC:HGNC:25799
See related
Ensembl:ENSG00000151806 MIM:617064; AllianceGenome:HGNC:25799
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EF4; EF-4; DEE40; EIEE40
Summary
This gene encodes a GTPase that triggers back-translocation of the elongating ribosome during mitochondrial protein synthesis. The protein contains a highly conserved C-terminal domain not found in other GTPases that facilitates tRNA binding. The encoded protein is thought to prevent misincorporation of amino acids in stressful, suboptimal conditions. An allelic variant in this gene has been associated with early infantile epileptic encephalopathy-40. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Expression
Ubiquitous expression in brain (RPKM 5.7), testis (RPKM 4.4) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
4p12
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (44678420..44700928)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (44645331..44667849)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (44680437..44702945)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene potassium channel tetramerization domain containing 8 Neighboring gene uncharacterized LOC107986275 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:44665473-44665974 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:44665975-44666474 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:44679656-44680544 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15397 Neighboring gene Yip1 domain family member 7 Neighboring gene Sharpr-MPRA regulatory region 4028 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21527 Neighboring gene uncharacterized LOC105374439 Neighboring gene glucosamine-6-phosphate deaminase 2 Neighboring gene uncharacterized LOC112268465

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Elongation factor 4 remodels the A-site tRNA on the ribosome. Gagnon MG, et al. Proc Natl Acad Sci U S A, 2016 May 3. PMID 27092003, Free PMC Article
  2. West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1. Alfaiz AA, et al. Eur J Hum Genet, 2016 Jul. PMID 26486472, Free PMC Article
  3. The paradox of elongation factor 4: highly conserved, yet of no physiological significance? Zhang D, et al. Biochem J, 2013 Jun 1. PMID 23662805
  4. GUF1, a gene encoding a novel evolutionarily conserved GTPase in budding yeast. Kiser GL, et al. Yeast, 1995 Oct. PMID 8553703
  5. The proteomic reactor facilitates the analysis of affinity-purified proteins by mass spectrometry: application for identifying ubiquitinated proteins in human cells. Vasilescu J, et al. J Proteome Res, 2007 Jan. PMID 17203973

See all (35) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Homozygous variant in the GUF1 gene identified in the three siblings with West syndrome.
    Title: West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1.
  2. The structure provides insights into the tRNA-remodeling function of EF-4 on the ribosome and suggests that the displacement of the CCA-end of the A-site tRNA away from the peptidyl transferase center (PTC) is functionally significant.
    Title: Elongation factor 4 remodels the A-site tRNA on the ribosome.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Developmental and epileptic encephalopathy, 40
MedGen: C4310737 OMIM: 617065 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Clone Names

  • FLJ13220

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTP binding IEA
Inferred from Electronic Annotation
more info
  
enables GTPase activity IEA
Inferred from Electronic Annotation
more info
  
enables mitochondrial ribosome binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in positive regulation of translation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in translation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
  
located_in mitochondrial matrix IEA
Inferred from Electronic Annotation
more info
  
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
translation factor GUF1, mitochondrial
Names
GTP-binding protein GUF1 homolog
GTPase of unknown function 1
GUF1 homolog, GTPase
elongation factor 4 homolog
ribosomal back-translocase

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_051569.1 RefSeqGene

    Range
    5026..27534
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001345867.2 → NP_001332796.1  translation factor GUF1, mitochondrial isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC096586
    Conserved Domains (1) summary
    cl27769
    Location:1 → 341
    GTP_EFTU; Elongation factor Tu GTP binding domain

  2. NM_001345868.2 → NP_001332797.1  translation factor GUF1, mitochondrial isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC096586
    Conserved Domains (6) summary
    cd01890
    Location:69 → 246
    LepA; LepA also known as Elongation Factor 4 (EF4)
    PRK05433
    Location:64 → 625
    PRK05433; GTP-binding protein LepA; Provisional
    cd03709
    Location:471 → 550
    lepA_C; lepA_C: This family represents the C-terminal region of LepA, a GTP-binding protein localized in the cytoplasmic membrane. LepA is ubiquitous in Bacteria and Eukaryota (e.g. Saccharomyces cerevisiae GUF1p), but is missing from Archaea. LepA exhibits ...
    pfam06421
    Location:572 → 624
    LepA_C; GTP-binding protein LepA C-terminus
    cd03699
    Location:254 → 339
    EF4_II; Domain II of Elongation Factor 4 (EF4)
    cd16260
    Location:355 → 430
    EF4_III; Domain III of Elongation Factor 4 (EF4)

  3. NM_001345869.2 → NP_001332798.1  translation factor GUF1, mitochondrial isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC096586
    Conserved Domains (1) summary
    cl27769
    Location:1 → 341
    GTP_EFTU; Elongation factor Tu GTP binding domain

  4. NM_021927.3 → NP_068746.2  translation factor GUF1, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_068746.2

    Status: REVIEWED

    Source sequence(s)
    AC096586, AK025248, BC036768, DA997676
    Consensus CDS
    CCDS3468.1
    UniProtKB/Swiss-Prot
    Q5XKM8, Q8N442, Q9H710, Q9H8U4
    Related
    ENSP00000281543.5, ENST00000281543.6
    Conserved Domains (6) summary
    cd01890
    Location:69 → 246
    LepA; LepA also known as Elongation Factor 4 (EF4)
    PRK05433
    Location:64 → 665
    PRK05433; GTP-binding protein LepA; Provisional
    cd03709
    Location:471 → 550
    lepA_C; lepA_C: This family represents the C-terminal region of LepA, a GTP-binding protein localized in the cytoplasmic membrane. LepA is ubiquitous in Bacteria and Eukaryota (e.g. Saccharomyces cerevisiae GUF1p), but is missing from Archaea. LepA exhibits ...
    pfam06421
    Location:558 → 664
    LepA_C; GTP-binding protein LepA C-terminus
    cd03699
    Location:254 → 339
    EF4_II; Domain II of Elongation Factor 4 (EF4)
    cd16260
    Location:355 → 430
    EF4_III; Domain III of Elongation Factor 4 (EF4)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    44678420..44700928
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024454178.2 → XP_024309946.1  translation factor GUF1, mitochondrial isoform X1

    Conserved Domains (1) summary
    PRK05433
    Location:14 → 615
    PRK05433; GTP-binding protein LepA; Provisional

  2. XM_047416063.1 → XP_047272019.1  translation factor GUF1, mitochondrial isoform X2

  3. XM_047416065.1 → XP_047272021.1  translation factor GUF1, mitochondrial isoform X4

    Related
    ENST00000506793.5

  4. XM_047416064.1 → XP_047272020.1  translation factor GUF1, mitochondrial isoform X3

  5. XM_047416066.1 → XP_047272022.1  translation factor GUF1, mitochondrial isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    44645331..44667849
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054350695.1 → XP_054206670.1  translation factor GUF1, mitochondrial isoform X1

  2. XM_054350696.1 → XP_054206671.1  translation factor GUF1, mitochondrial isoform X2

  3. XM_054350698.1 → XP_054206673.1  translation factor GUF1, mitochondrial isoform X4

  4. XM_054350697.1 → XP_054206672.1  translation factor GUF1, mitochondrial isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N442.1 GenPept UniProtKB/Swiss-Prot:Q8N442

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